Advanced CMR Techniques in Anderson-Fabry Disease: State of the Art
Anderson-Fabry disease (AFD) is a rare multisystem X-linked lysosomal storage disorder caused by α-galactosidase A enzyme deficiency. Long-term cardiac involvement in AFD results in left ventricular hypertrophy and myocardial fibrosis, inducing several complications, mainly arrhythmias, valvular dys...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-08-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/13/15/2598 |
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| author | Andrea Ponsiglione Marco De Giorgi Raffaele Ascione Carmela Nappi Luca Sanduzzi Antonio Pisani Serena Dell’Aversana Alberto Cuocolo Massimo Imbriaco |
| author_facet | Andrea Ponsiglione Marco De Giorgi Raffaele Ascione Carmela Nappi Luca Sanduzzi Antonio Pisani Serena Dell’Aversana Alberto Cuocolo Massimo Imbriaco |
| author_sort | Andrea Ponsiglione |
| collection | DOAJ |
| description | Anderson-Fabry disease (AFD) is a rare multisystem X-linked lysosomal storage disorder caused by α-galactosidase A enzyme deficiency. Long-term cardiac involvement in AFD results in left ventricular hypertrophy and myocardial fibrosis, inducing several complications, mainly arrhythmias, valvular dysfunction, and coronary artery disease. Cardiac magnetic resonance (CMR) represents the predominant noninvasive imaging modality for the assessment of cardiac involvement in the AFD, being able to comprehensively assess cardiac regional anatomy, ventricular function as well as to provide tissue characterization. This review aims to explore the role of the most advanced CMR techniques, such as myocardial strain, T1 and T2 mapping, perfusion and hybrid imaging, as diagnostic and prognostic biomarkers. |
| first_indexed | 2024-03-11T00:29:44Z |
| format | Article |
| id | doaj.art-bc37bcaa696845dba9d814c4f6882846 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-11T00:29:44Z |
| publishDate | 2023-08-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-bc37bcaa696845dba9d814c4f68828462023-11-18T22:47:38ZengMDPI AGDiagnostics2075-44182023-08-011315259810.3390/diagnostics13152598Advanced CMR Techniques in Anderson-Fabry Disease: State of the ArtAndrea Ponsiglione0Marco De Giorgi1Raffaele Ascione2Carmela Nappi3Luca Sanduzzi4Antonio Pisani5Serena Dell’Aversana6Alberto Cuocolo7Massimo Imbriaco8Department of Advanced Biomedical Sciences, University of Naples Federico II, 80131 Naples, ItalyDepartment of Advanced Biomedical Sciences, University of Naples Federico II, 80131 Naples, ItalyDepartment of Diagnostic Imaging, Pineta Grande Hospital, 81030 Castel Volturno, ItalyDepartment of Advanced Biomedical Sciences, University of Naples Federico II, 80131 Naples, ItalyDepartment of Advanced Biomedical Sciences, University of Naples Federico II, 80131 Naples, ItalyDepartment of Public Health, University of Naples Federico II, 80131 Naples, ItalyDepartment of Radiology, Santa Maria delle Grazie Hospital, ASL Napoli 2 Nord, 80078 Pozzuoli, ItalyDepartment of Advanced Biomedical Sciences, University of Naples Federico II, 80131 Naples, ItalyDepartment of Advanced Biomedical Sciences, University of Naples Federico II, 80131 Naples, ItalyAnderson-Fabry disease (AFD) is a rare multisystem X-linked lysosomal storage disorder caused by α-galactosidase A enzyme deficiency. Long-term cardiac involvement in AFD results in left ventricular hypertrophy and myocardial fibrosis, inducing several complications, mainly arrhythmias, valvular dysfunction, and coronary artery disease. Cardiac magnetic resonance (CMR) represents the predominant noninvasive imaging modality for the assessment of cardiac involvement in the AFD, being able to comprehensively assess cardiac regional anatomy, ventricular function as well as to provide tissue characterization. This review aims to explore the role of the most advanced CMR techniques, such as myocardial strain, T1 and T2 mapping, perfusion and hybrid imaging, as diagnostic and prognostic biomarkers.https://www.mdpi.com/2075-4418/13/15/2598cardiac magnetic resonanceAnderson-Fabry diseasestrainT1 mappingT2 mappingperfusion imaging |
| spellingShingle | Andrea Ponsiglione Marco De Giorgi Raffaele Ascione Carmela Nappi Luca Sanduzzi Antonio Pisani Serena Dell’Aversana Alberto Cuocolo Massimo Imbriaco Advanced CMR Techniques in Anderson-Fabry Disease: State of the Art Diagnostics cardiac magnetic resonance Anderson-Fabry disease strain T1 mapping T2 mapping perfusion imaging |
| title | Advanced CMR Techniques in Anderson-Fabry Disease: State of the Art |
| title_full | Advanced CMR Techniques in Anderson-Fabry Disease: State of the Art |
| title_fullStr | Advanced CMR Techniques in Anderson-Fabry Disease: State of the Art |
| title_full_unstemmed | Advanced CMR Techniques in Anderson-Fabry Disease: State of the Art |
| title_short | Advanced CMR Techniques in Anderson-Fabry Disease: State of the Art |
| title_sort | advanced cmr techniques in anderson fabry disease state of the art |
| topic | cardiac magnetic resonance Anderson-Fabry disease strain T1 mapping T2 mapping perfusion imaging |
| url | https://www.mdpi.com/2075-4418/13/15/2598 |
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